Lactic acidosis due to pyruvate carboxylase deficiency.
Two unrelated Canadian Indian infants presented with metabolic acidosis. Lactate, pyruvate, glutamic acid, proline and alanine were greatly elevated in plasma. Urinary excretion of alpha-ketoglutarate and pyruvate was increased. Pyruvate carboxylase activity was very low in skin fibroblasts and liver. Phosphoenolpyruvate carboxykinase was low in liver. Both infants were unresponsive to several enzyme cofactors, including biotin. Both survive at age 2 years with severe mental retardation..
D000138:Acidosis / Q000209:etiology* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood*; D019344:Lactic Acid; D008099:Liver / Q000201:enzymology; D008297:Male; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000172:deficiency; D015324:Pyruvate Carboxylase Deficiency Disease; D011773:Pyruvates / Q000378:metabolism; D019289:Pyruvic Acid; D012867:Skin / Q000201:enzymology
D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid; D010729:Phosphoenolpyruvate Carboxykinase (GTP)